The ketogenic diet is a high fat, restricted carbohydrate regime that has been used as a successful treatment for epilepsy since the s. Alternative ketogenic therapies to this strict classical diet are the addition of medium chain triglyceride MCT allowing more carbohydrate and protein, or two more relaxed newer variants, the modified Atkins diet and low glycaemic index treatment. GLUT1DS is caused by a defect in the transporter protein responsible for moving glucose across the blood-brain barrier into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid in the absence of hypoglycaemia, in combination with a low to normal lactate in the cerebrospinal fluid 1. Ketogenic therapy provides ketones which can be used as an alternative energy source for the brain and is therefore the recommended first-line treatment. A low glycaemic index diet combined with modified high amylopectin cornstarch has also been tried Although reports have limited patient numbers and there has been caution about use of more liberal ketogenic therapies in GLUT1DS 17, these may be preferred by older children or adolescents. Japanese physicians provided efficacy data on their GLUT1DS patients: 31 were treated with ketogenic therapy including 11 on classical ketogenic diet, 3 MCT ketogenic diet and 17 on modified Atkins diet. The latter was reported as the most palatable with comparable effectiveness to the classical ketogenic diet A survey of 90 parents of GLUT1DS children treated with ketogenic therapy attending a GLUT1DS Foundation meeting in USA found no significant seizure outcome differences between the different diet variants 59 classical ketogenic diet, 29 modified Atkins diet, 4 MCT ketogenic diet and 2 low glycaemic index treatment with many switching between the types of diet
Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid lactic acidosis, which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Most have delayed development of mental abilities and motor skills, such as sitting and walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain corpus callosum, wasting away atrophy of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue lesions on some parts of the brain. Because of the severe health effects, many people with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood. The citric acid cycle is a major biochemical process that derives energy from carbohydrates. Malfunction of this cycle deprives the body of energy. An abnormal lactate buildup results in nonspecific symptoms. The progression and presentation of Pyruvate dehydrogenase deficiency widely varies and affects each child differently. Below are some of the more common signs and symptoms -. Pyruvate dehydrogenase deficiency is a rare disorder.
Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues. Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. A systematic literature review was also performed. Nineteen patients were assessed, the majority having prenatal disease onset. Patients were treated with ketogenic diet for a median of 2. It was also safe—except in one patient who discontinued because of acute pancreatitis. The median plasma concentration of ketone bodies 3-hydroxybutyric acid was 3. Ketogenic diet was an effective and safe treatment for the majority of patients. Treatment effect was mainly determined by disease phenotype and attainment and maintenance of ketosis. The online version of this article doi The ketogenic diet KD was first introduced as an antiepileptic treatment, in Wilder , but it was not until that KD was shown to be beneficial in pyruvate dehydrogenase complex PDC deficiency Falk et al.